A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987212



Internal ID12636436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52307149..52368649hg38UCSC Ensembl
Innerchr12:52700933..52762433hg19UCSC Ensembl
Innerchr12:50987200..51048700hg18UCSC Ensembl
Innerchr12:50987200..51048700hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3861501
hg1961501
hg1861501
hg1761501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751103
Supporting Variants
SamplesSPC_140
Known GenesKRT83, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987212
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer